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Gba1 Gene Detail
Summary
  • Symbol
    Gba1
  • Name
    glucosylceramidase beta 1
  • Synonyms
    betaGC, Gba, GBA1, GC, GCase, glucocerebrosidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:95665
    NCBI Gene: 14466
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:89110235-89116273 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 39.01 cM
  • Mapping Data
    35 experiments
Strain
Comparison
more
  • SNPs within 2kb
    229 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    3
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95665
 protein coding gene Chr3:89110235-89119944 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027421
 protein coding gene Chr3:89403397-89409435 (+)
A/J MGP_AJ_G0027385
 protein coding gene Chr3:86442782-86448822 (+)
AKR/J MGP_AKRJ_G0027349
 protein coding gene Chr3:88538710-88544750 (+)
BALB/cJ MGP_BALBcJ_G0027394
 protein coding gene Chr3:86411861-86417899 (+)
C3H/HeJ MGP_C3HHeJ_G0027136
 protein coding gene Chr3:88737575-88743615 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027840
 protein coding gene Chr3:92787826-92793864 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025192
 protein coding gene Chr3:81927752-81933738 (+)
CAST/EiJ MGP_CASTEiJ_G0026582
 protein coding gene Chr3:89086434-89094367 (+)
CBA/J MGP_CBAJ_G0027110
 protein coding gene Chr3:95968350-95975563 (+)
DBA/2J MGP_DBA2J_G0027248
 protein coding gene Chr3:85826332-85832370 (+)
FVB/NJ MGP_FVBNJ_G0027216
 protein coding gene Chr3:84165608-84171648 (+)
LP/J MGP_LPJ_G0027357
 protein coding gene Chr3:90484348-90490386 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027236
 protein coding gene Chr3:102187909-102193947 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027899
 protein coding gene Chr3:88288808-88294848 (+)
PWK/PhJ MGP_PWKPhJ_G0026316
 protein coding gene Chr3:85699193-85705292 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026135
 protein coding gene Chr3:87459951-87465805 (+)
WSB/EiJ MGP_WSBEiJ_G0026664
 protein coding gene Chr3:88680427-88686467 (+)



Homology
more
  • Human Ortholog
    GBA1, glucosylceramidase beta 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GBA1, glucosylceramidase beta 1
  • Synonyms
    GBA, GCB, GLUC
  • Links
    NCBI Gene ID: 2629
    neXtProt AC: NX_P04062
    UniProt: P04062

  • Chr Location
    1q22; chr1:155234452-155244699 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Gba1 mouse models; 10 with human GBA1 associations

Human Disease Mouse Models
      
IDs
 View 9 models
IDs
 View 6 models
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    14 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    112 phenotypes from 19 alleles in 19 genetic backgrounds
    4 phenotypes from multigenic genotypes
    11 images
    118 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this locus variably lower enzyme activity and result in accumulated glucocerebroside in reticuloendotehelial cell lysosomes and glucosylceramide in brain, liver and skin. Severe mutants die perinatally with compromised epidermal permeability.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    114
  • GO References
    18
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    957
  • Tissues
    215
  • cDNA Data
    79
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028048 Ensembl Gene Model | MGI Sequence Detail 6039 C57BL/6J ±  kb
    transcript ENSMUST00000167998 Ensembl | MGI Sequence Detail 1938 Not Applicable  
    polypeptide ENSMUSP00000130660 Ensembl | MGI Sequence Detail 515 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 92
      Genomic 8
      cDNA 80
      Primer pair 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10007, MGI:7484520
    References
    more
    • Summaries
      All 195
      Developmental Gene Expression 6
      Diseases 10
      Gene Ontology 18
      Phenotypes 118
    • Earliest
      J:18511 Pentchev PG, et al., A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980 Sep 8;619(3):669-79
    • Latest
      J:356433 Lin Y, et al., Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease. Hum Mol Genet. 2024 Oct 7;33(20):1771-1788
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory